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DiGeorge syndrome: part of CATCH 22.
DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It results in almost all cases from a deletion within chromosome 22q11. We report the clinical findings in 44 cases. We propose that DiGeorge syndrome should be seen as the...
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| Publicado en: | J Med Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BMJ Publishing Group
1993
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016569/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8230162/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.10.852 |
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